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Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene.
Features include common findings: Microcephaly, Mild intellectual disability, Aplasia cutis congenita, and Short distal phalanx of finger; and sometimes findings: Short 5th toe, Short palm, Short palpebral fissure, and 2-3 toe syndactyly and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 5 | Short 5th toe, 2-3 toe syndactyly, Absent toe |
RBPJ function has not been fully characterized.
Adams-Oliver syndrome 3 is associated with mutations in the RBPJ gene on chromosome 4.
Genetic testing for RBPJ is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 common features.
No clinical trials have been registered for Adams-Oliver syndrome 3.
12 publications have been identified in PubMed for Adams-Oliver syndrome 3. Research spans Case Report / Case Series (42%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (25%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 42% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:40 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Adams-Oliver syndrome 3
Brain and nerves |
2 |
Mild intellectual disability, Delayed gross motor development |
Head and neck | 1 | Microcephaly |
Muscles | 1 | Delayed gross motor development |
Age of onset: at birth.
4 |
33% |
Laboratory research | 3 | 25% |
Halawani LK (2026). [PMID: 41477812](https://pubmed.ncbi.nlm.nih.gov/41477812/). *Am J Case Rep*. [Case Report / Case Series]
He Y (2026). [PMID: 41959640](https://pubmed.ncbi.nlm.nih.gov/41959640/). *Glob Med Genet*. [Basic Science / Preclinical]
Damian GC (2026). [PMID: 41594250](https://pubmed.ncbi.nlm.nih.gov/41594250/). *Diagnostics (Basel)*. [Case Report / Case Series]
Oral M (2026). [PMID: 41457518](https://pubmed.ncbi.nlm.nih.gov/41457518/). *Ophthalmic Genet*. [Review / Meta-Analysis]
Ron O (2025). [PMID: 40202490](https://pubmed.ncbi.nlm.nih.gov/40202490/). *Plast Reconstr Surg*. [Review / Meta-Analysis]
Huang Y (2025). [PMID: 40098638](https://pubmed.ncbi.nlm.nih.gov/40098638/). *Front Pediatr*. [Case Report / Case Series]
Solano AF (2025). [PMID: 41055965](https://pubmed.ncbi.nlm.nih.gov/41055965/). *J Clin Invest*. [Basic Science / Preclinical]
Huynh D (2025). [PMID: 39893191](https://pubmed.ncbi.nlm.nih.gov/39893191/). *Nat Commun*. [Basic Science / Preclinical]
Badiu Tișa I (2025). [PMID: 41516051](https://pubmed.ncbi.nlm.nih.gov/41516051/). *Int J Mol Sci*. [Review / Meta-Analysis]
Stanley KJ (2024). [PMID: 38778082](https://pubmed.ncbi.nlm.nih.gov/38778082/). *Eur J Hum Genet*. [Review / Meta-Analysis]
AI-curated news mentioning Adams-Oliver syndrome 3
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.